ASPA Gene Canavan Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Canavan Disease
The ASPA Gene Canavan Disease NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with Canavan disease. This rare, inherited disorder affects the central nervous system and primarily impacts infants and young children. Our advanced testing methodology utilizes next-generation sequencing (NGS) technology to provide comprehensive analysis of the ASPA gene, ensuring accurate results for informed medical decisions.
What Does This Test Measure and Detect?
This specialized genetic test specifically targets the ASPA (aspartoacylase) gene, which plays a critical role in breaking down N-acetylaspartic acid (NAA) in the brain. The test detects:
- Point mutations, deletions, and insertions in the ASPA gene
- Genetic variants associated with Canavan disease development
- Carrier status for individuals with family history
- Specific mutations that affect NAA metabolism
Who Should Consider This Genetic Test?
This test is recommended for individuals and families in the following circumstances:
- Infants or children showing developmental delays or neurological symptoms
- Families with a known history of Canavan disease
- Couples planning pregnancy with Eastern European Jewish ancestry (higher risk population)
- Individuals with unexplained neurological symptoms including poor head control, feeding difficulties, or abnormal muscle tone
- Parents seeking carrier screening for family planning purposes
Key Symptoms and Clinical Indications
Early detection is crucial for Canavan disease management. Consider testing if you observe:
- Developmental regression in infants
- Poor head control and weak muscle tone
- Feeding difficulties and swallowing problems
- Abnormally large head size (macrocephaly)
- Seizures or unusual eye movements
- Progressive loss of motor skills
Benefits of ASPA Gene Canavan Disease Testing
Choosing our comprehensive genetic testing provides numerous advantages for patients and families:
- Early Diagnosis: Enables timely intervention and management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Carrier Identification: Helps identify at-risk family members
- Medical Guidance: Informs treatment approaches and care planning
- Peace of Mind: Reduces uncertainty about genetic risks
- Comprehensive Analysis: NGS technology ensures thorough gene examination
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your results:
- Positive Result: Indicates the presence of ASPA gene mutations associated with Canavan disease
- Negative Result: Suggests no detected mutations in the analyzed gene regions
- Carrier Status: Identifies individuals who carry one copy of the mutated gene
- Variant of Uncertain Significance: Requires additional family studies for clarification
All results include detailed explanations and recommendations for next steps from our certified genetic counselors.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Testing Method: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential results and their meaning
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing for families nationwide.
Book Your Genetic Test Today
Take the first step toward genetic clarity and informed healthcare decisions. Our experienced team is ready to assist you with scheduling, questions, and support throughout the testing process.
Call or WhatsApp: +1(267) 388-9828
Schedule your ASPA Gene Canavan Disease NGS Genetic DNA Test today and gain valuable insights into your genetic health. Our dedicated genetic counselors are available to discuss your specific needs and guide you through the testing journey.
